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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-197084242-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197084242&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197084242,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "NM_018136.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "n.3803G>A",
"hgvs_p": null,
"transcript": "ENST00000367408.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "NM_018136.5",
"protein_id": "NP_060606.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3477,
"cds_start": -4,
"cds_end": null,
"cds_length": 10434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10863,
"mane_select": "ENST00000367409.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "ENST00000367409.9",
"protein_id": "ENSP00000356379.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3477,
"cds_start": -4,
"cds_end": null,
"cds_length": 10434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10863,
"mane_select": "NM_018136.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "ENST00000294732.11",
"protein_id": "ENSP00000294732.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": -4,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "ENST00000680265.1",
"protein_id": "ENSP00000505384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3551,
"cds_start": -4,
"cds_end": null,
"cds_length": 10656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "NM_001206846.2",
"protein_id": "NP_001193775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": -4,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "ENST00000680710.1",
"protein_id": "ENSP00000506676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3469,
"cds_start": -4,
"cds_end": null,
"cds_length": 10410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"dbsnp": "rs775183015",
"frequency_reference_population": 0.00042079433,
"hom_count_reference_population": 3,
"allele_count_reference_population": 428,
"gnomad_exomes_af": 0.00043579,
"gnomad_genomes_af": 0.000335465,
"gnomad_exomes_ac": 377,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.88,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018136.5",
"gene_symbol": "ASPM",
"hgnc_id": 19048,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*82G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 5",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Microcephaly 5, primary, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}